WO2014015084A3 - Système et procédés pour la détection d'une variation génétique - Google Patents

Système et procédés pour la détection d'une variation génétique Download PDF

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Publication number
WO2014015084A3
WO2014015084A3 PCT/US2013/050965 US2013050965W WO2014015084A3 WO 2014015084 A3 WO2014015084 A3 WO 2014015084A3 US 2013050965 W US2013050965 W US 2013050965W WO 2014015084 A3 WO2014015084 A3 WO 2014015084A3
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WIPO (PCT)
Prior art keywords
methods
aspects
genetic variation
detecting genetic
barcode
Prior art date
Application number
PCT/US2013/050965
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English (en)
Other versions
WO2014015084A2 (fr
Inventor
Hunter RICHARDS
Eric Evans
Balaji Srinivasan
Subramaniam SRINIVASAN
Abhik SHAH
A. Scott PATTERSON
Clement Chu
Original Assignee
Counsyl, Inc.
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Priority claimed from US13/551,590 external-priority patent/US20140024542A1/en
Priority claimed from US13/551,584 external-priority patent/US20140024536A1/en
Priority claimed from US13/551,587 external-priority patent/US20140024541A1/en
Priority claimed from US13/665,671 external-priority patent/US9092401B2/en
Priority to EP13820115.7A priority Critical patent/EP2875173B1/fr
Priority to CA2876505A priority patent/CA2876505A1/fr
Application filed by Counsyl, Inc. filed Critical Counsyl, Inc.
Priority to AU2013292610A priority patent/AU2013292610B2/en
Priority to JP2015523238A priority patent/JP6285929B2/ja
Priority to ES13820115.7T priority patent/ES2637538T3/es
Priority to CN201380045879.5A priority patent/CN104812947B/zh
Publication of WO2014015084A2 publication Critical patent/WO2014015084A2/fr
Publication of WO2014015084A3 publication Critical patent/WO2014015084A3/fr
Priority to IL236269A priority patent/IL236269A0/en
Priority to AU2018217306A priority patent/AU2018217306A1/en

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Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869—Methods for sequencing
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869—Methods for sequencing
    • C12Q1/6874—Methods for sequencing involving nucleic acid arrays, e.g. sequencing by hybridisation

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  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • Biotechnology (AREA)
  • Molecular Biology (AREA)
  • Biophysics (AREA)
  • Analytical Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • Immunology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)

Abstract

L'invention concerne des procédés, des appareils et des compositions pour le séquençage par amplification à haut débit de séquences cibles spécifiques dans un ou plusieurs échantillons. Dans certains aspects, des polynucléotides marqués par un code-barres sont séquencés simultanément et des sources d'échantillon sont identifiées sur la base des séquences code-barres. Dans certains aspects, les données de séquençage sont utilisées pour déterminer un ou plusieurs génotypes au niveau d'un ou plusieurs loci comprenant un variant génétique causal. Dans certains aspects, l'invention concerne des systèmes et procédés de détection d'une variation génétique.
PCT/US2013/050965 2012-07-17 2013-07-17 Système et procédés pour la détection d'une variation génétique WO2014015084A2 (fr)

Priority Applications (8)

Application Number Priority Date Filing Date Title
CN201380045879.5A CN104812947B (zh) 2012-07-17 2013-07-17 检测遗传变异的***和方法
ES13820115.7T ES2637538T3 (es) 2012-07-17 2013-07-17 Sistema y métodos para la detección de una variación genética
JP2015523238A JP6285929B2 (ja) 2012-07-17 2013-07-17 遺伝的変異を検出するためのシステムおよび方法
AU2013292610A AU2013292610B2 (en) 2012-07-17 2013-07-17 System and methods for detecting genetic variation
CA2876505A CA2876505A1 (fr) 2012-07-17 2013-07-17 Systeme et procedes pour la detection d'une variation genetique
EP13820115.7A EP2875173B1 (fr) 2012-07-17 2013-07-17 Système et procédés pour la détection d'une variation génétique
IL236269A IL236269A0 (en) 2012-07-17 2014-12-15 System and methods for detecting genetic variation
AU2018217306A AU2018217306A1 (en) 2012-07-17 2018-08-17 System and methods for detecting genetic variation

Applications Claiming Priority (8)

Application Number Priority Date Filing Date Title
US13/551,587 2012-07-17
US13/551,590 US20140024542A1 (en) 2012-07-17 2012-07-17 Methods and compositions for enrichment of target polynucleotides
US13/551,587 US20140024541A1 (en) 2012-07-17 2012-07-17 Methods and compositions for high-throughput sequencing
US13/551,584 2012-07-17
US13/551,590 2012-07-17
US13/551,584 US20140024536A1 (en) 2012-07-17 2012-07-17 Apparatus and methods for high-throughput sequencing
US13/665,671 2012-10-31
US13/665,671 US9092401B2 (en) 2012-10-31 2012-10-31 System and methods for detecting genetic variation

Publications (2)

Publication Number Publication Date
WO2014015084A2 WO2014015084A2 (fr) 2014-01-23
WO2014015084A3 true WO2014015084A3 (fr) 2014-03-06

Family

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Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2013/050965 WO2014015084A2 (fr) 2012-07-17 2013-07-17 Système et procédés pour la détection d'une variation génétique

Country Status (9)

Country Link
EP (2) EP3243937A1 (fr)
JP (3) JP6285929B2 (fr)
CN (2) CN104812947B (fr)
AU (2) AU2013292610B2 (fr)
CA (1) CA2876505A1 (fr)
ES (1) ES2637538T3 (fr)
HK (1) HK1246372A1 (fr)
IL (1) IL236269A0 (fr)
WO (1) WO2014015084A2 (fr)

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EP3243937A1 (fr) 2017-11-15
AU2013292610A1 (en) 2015-01-22
HK1246372A1 (zh) 2018-09-07
EP2875173B1 (fr) 2017-06-28
CA2876505A1 (fr) 2014-01-23
ES2637538T3 (es) 2017-10-13
WO2014015084A2 (fr) 2014-01-23
CN104812947A (zh) 2015-07-29
EP2875173A4 (fr) 2015-12-30
IL236269A0 (en) 2015-02-26
JP2018019701A (ja) 2018-02-08
JP6285929B2 (ja) 2018-02-28
JP6234629B1 (ja) 2017-11-22
CN108456717A (zh) 2018-08-28
JP2018038417A (ja) 2018-03-15
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